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Variant : CV640151 (NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)) Homo sapiens

Symbol: CV640151
Name: NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)
Condition: Costello syndrome [RCV000817769]
Clinical Significance: uncertain significance
Last Evaluated: 08/05/2018
Review Status: criteria provided, single submitter
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_176795.4:c.*101G>C
NM_001318054.2:c.295G>C
NM_001130442.2:c.532G>C
NM_005343.4:c.532G>C
NG_007666.1:g.7877G>C
NC_000011.10:g.532674C>G
NC_000011.9:g.532674C>G
NM_005343.2:c.532G>C
NP_001123914.1:p.Gly178Arg
NP_005334.1:p.Gly178Arg
NP_001304983.1:p.Gly99Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh3811532,674 - 532,674CLINVAR
GRCh3711532,674 - 532,674CLINVAR
Cytogenetic Map1111p15.5CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14731302
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.